A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Table 1 Rare and novel CNVs identified from Chinese infantile spasms children

Subject	Sex	Onset of IS (month)	EEG (HYPS+/-)	Genomic location/coordinates (hg19)	Genomic event	Size	Inheritance	Candidate gene(s)
Pathogenic
S100	M	4	+	chr17:2,405,454-2,520,464	Del	115 Kb	De novo	PAFAH1B1
S37	M	5	+	chr1:244,961,797-247,074,490	Del	2.1 Mb	De novo	HNRNPU
S162	F	6	-	chr2:147,953,313-152,061,251	Del	4.1 Mb	De novo	MBD5
S67	F	10	+	chr1:145,764,453-147,824,207	Dup	2.0 Mb	De novo	CHD1L
Unknown clinical significance
S15	F	2	+	chr10:84,222,075-85,293,140	Dup	1.0 Mb	Paternal	NRG3
S34	M	5	+	chrX:102,262,951-102,659,333	Dup	396 kb	Maternal	NGFRAP1
S134	F	4	+	chr17:14,111,754-15,442,119	Del	1.3 Mb	Paternal	PMP22
S163	F	4	+	chrX:6,451,691-8,115,193	Dup	1.6 Mb	Paternal	STS,VCX3A
S165	M	5	+	chr11:101,857,720-102,256,635	Del	398 kb	De novo	YAP1
Probably benign
S2	M	3	+	chr2:216,898,976-217,160,487	Dup	261 kb	Not determined
S34	M	5	+	chr2:137,826,656-138,048,583	Dup	221 kb	Paternal
S42	M	4	+	chr4:48,983,002-49,063,489	Dup	80 kb	Paternal
S75	M	6	+	chr6:118,989,529-120,238,639	Dup	1.2 Mb	Not determined
S133	M	13	-	chr8:135,644,952-135,791,363	Dup	146 Kb	De novo

ISSN: 1471-2350